A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17697428



Internal ID121094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:72099460..72104103hg38UCSC Ensembl
chr14:72566177..72570820hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg384644
hg194644
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5505392
Supporting Variants
Samples
Known GenesRGS6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17697428
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000937


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